Disease: Gorlin Chaudhry Moss syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0345382
Disease: Gorlin Chaudhry Moss syndrome
Gorlin Chaudhry Moss syndrome 		0.310 GeneticVariation disease BEFREE Using exome and genome sequencing, we identified the recurrent de novo mutations c.650G>A (p.Arg217His) and c.649C>T (p.Arg217Cys) in SLC25A24 in five unrelated girls diagnosed with GCMS. 29100093 2017
CUI: C0345382
Disease: Gorlin Chaudhry Moss syndrome
Gorlin Chaudhry Moss syndrome 		0.310 GermlineCausalMutation disease ORPHANET Using exome and genome sequencing, we identified the recurrent de novo mutations c.650G>A (p.Arg217His) and c.649C>T (p.Arg217Cys) in SLC25A24 in five unrelated girls diagnosed with GCMS. 29100093 2017